Details for Combination OLI280

VARIANTS SOD1:c.112G>A, p.Gly38Arg in Heterozygous form; ANG:c.407C>T, p.Pro136Leu in Heterozygous form; DCTN1:c.3746C>T, p.Thr1249Ile in Heterozygous form
GENE COMBINATION ANG; DCTN1; SOD1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 614696; 300857; 608031; 612069; 616208; 105400; 612577; 608627; 613954; 615426; 617839; 205250; 613435; 606640; 616437; 615515; 611895; 614808; 608030; 606070; 617892
DISEASES Amyotrophic lateral sclerosis
REFERENCES 25382069
SCORES
FAMmanual
0

STAT
manualknowledgemeta
212

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
01


Found any issues with the data on this page? Report this entry.